SD
MCID: SLL003
MIFTS: 43

Salla Disease (SD) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases

Aliases & Classifications for Salla Disease

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Aliases & Descriptions for Salla Disease:

Name: Salla Disease 52 48 24 54 70 27 12
Sialic Acid Storage Disease, Finnish Type 68
Sialuria, Finnish Type 48
 
Finnish Type Sialuria 70
Sd 70

Characteristics:

Orphanet epidemiological data:

54
salla disease:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide),1-9/100000 (Sweden); Age of onset: Infancy; Age of death: normal life expectancy

HPO:

64
salla disease:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 604369
Orphanet54 ORPHA309334
ICD10 via Orphanet31 E77.8
MedGen37 C1096903

Summaries for Salla Disease

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NIH Rare Diseases:48 Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. infants with salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life, followed by slowly progressive neurological problems. signs and symptoms include intellectual disability and developmental delay; seizures; ataxia; muscle spasticity; and involuntary slow movements of the limbs (athetosis). about one-third of affected children learn to walk. it is caused by mutations in the slc17a5 gene and is inherited in an autosomal recessive manner. treatment is generally symptomatic and supportive. last updated: 10/14/2011

MalaCards based summary: Salla Disease, also known as sialic acid storage disease, finnish type, is related to intermediate severe salla disease and hemoglobin sd, and has symptoms including ataxia, ataxia and athetosis. An important gene associated with Salla Disease is SLC17A5 (Solute Carrier Family 17 Member 5), and among its related pathways are Tuberculosis and Phagosome. Affiliated tissues include brain and testes, and related mouse phenotype Increased shRNA abundance (Z-score > 2).

OMIM:52 Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile... (604369) more...

UniProtKB/Swiss-Prot:70 Salla disease: Sialic acid storage disease (SASD). SASDs are autosomal recessive neurodegenerative disorders characterized by hypotonia, cerebellar ataxia and mental retardation. They are caused by a defect in the metabolism of sialic acid which results in increased urinary excretion of unconjugated sialic acid, specifically N-acetylneuraminic acid. Enlarged lysosomes are seen on electron microscopic studies. Clinical symptoms of SD present usually at age less than 1 year and progression is slow.

Wikipedia:71 Salla disease (SD), also called sialic acid storage disease or Finnish type sialuria, is an autosomal... more...

Related Diseases for Salla Disease

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Diseases in the Salla Disease family:

Intermediate Severe Salla Disease

Diseases related to Salla Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 114)
idRelated DiseaseScoreTop Affiliating Genes
1intermediate severe salla disease12.0
2hemoglobin sd12.0
3shwachman-diamond syndrome11.7
4free sialic acid storage disorders11.3
5trichohepatoenteric syndrome 111.0
6semantic dementia11.0
7sydenham chorea11.0
8rheumatic encephalitis11.0
9microcephaly 1, primary, autosomal recessive10.8
10macrocephaly/autism syndrome10.8
11desbuquois dysplasia 110.8
12microcephaly 2, primary, autosomal recessive, with or without cortical malformations10.8
13sialidosis, type i10.8
14sialic acid storage disorder, infantile10.8
15multiple system atrophy10.8
16sandhoff disease, infantile, juvenile, and adult forms10.8
17microcephaly 5, primary, autosomal recessive10.7
18macular dystrophy, vitelliform, 510.7
19macular dystrophy, vitelliform, 410.7
20short stature with nonspecific skeletal abnormalities10.7
21acid-labile subunit, deficiency of10.7
22lissencephaly 410.7
23desbuquois dysplasia 210.7
24nanophthalmos 410.7
25microcephaly 10, primary, autosomal recessive10.7
26short stature, idiopathic familial10.7
27mental retardation and microcephaly with pontine and cerebellar hypoplasia10.7
28frontotemporal lobar degeneration with ubiquitin-positive inclusions10.7
29retinitis10.0
30neural tube defects9.9
31alcoholic hepatitis9.9
32frontonasal dysplasia 29.8LAMP1, LAMP2
33myopia9.8
34gallbladder cancer9.8
35ocular hypertension9.8
36sialuria9.8
37lysosomal storage disease9.8
38pulmonary emphysema9.8
39cystinosis9.8
40encephalopathy9.8
41retinoschisis9.7
42retinitis pigmentosa9.7
43choroiditis9.7
44diabetic macular edema9.7
45obesity9.6
46keratoconus9.6
47hydronephrosis9.6
48optic neuritis9.6
49hereditary spherocytosis9.6
50neuritis9.6

Graphical network of the top 20 diseases related to Salla Disease:



Diseases related to salla disease

Symptoms & Phenotypes for Salla Disease

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Symptoms by clinical synopsis from OMIM:

604369

Clinical features from OMIM:

604369

Human phenotypes related to Salla Disease:

 64 (show all 16)
id Description HPO Frequency HPO Source Accession
1 exotropia64 HP:0000577
2 nystagmus64 HP:0000639
3 delayed speech and language development64 HP:0000750
4 intellectual disability64 HP:0001249
5 seizures64 HP:0001250
6 ataxia64 HP:0001251
7 muscular hypotonia64 HP:0001252
8 spasticity64 HP:0001257
9 dysarthria64 HP:0001260
10 global developmental delay64 HP:0001263
11 growth delay64 HP:0001510
12 vacuolated lymphocytes64 HP:0001922
13 abnormality of metabolism/homeostasis64 HP:0001939
14 athetosis64 HP:0002305
15 inability to walk64 HP:0002540
16 thickened calvaria64 HP:0002684

UMLS symptoms related to Salla Disease:


ataxia, athetosis, muscle spasticity, seizures

GenomeRNAi Phenotypes related to Salla Disease according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-1926.2LAMP1, LAMP2, LAMP2, SLC17A5, LAMP2, SLC17A5

Drugs & Therapeutics for Salla Disease

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Salla Disease

Genetic Tests for Salla Disease

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Genetic tests related to Salla Disease:

id Genetic test Affiliating Genes
1 Salla Disease27 24 SLC17A5

Anatomical Context for Salla Disease

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MalaCards organs/tissues related to Salla Disease:

36
Brain, Testes

Publications for Salla Disease

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Articles related to Salla Disease:

(show all 48)
idTitleAuthorsYear
1
A 13-year follow-up of Finnish patients with Salla disease. (26171070)
2015
2
The early detection of Salla disease through second-tier tests in newborn screening: how to face incidental findings. (24993898)
2014
3
An Unusual Developmental Profile of Salla Disease in a Patient with the SallaFIN Mutation. (23227378)
2012
4
Salla disease in Turkish children: severe and conventional type. (20196397)
2009
5
Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease. (16170568)
2005
6
Genome-wide SNP arrays as a diagnostic tool: clinical description, genetic mapping, and molecular characterization of Salla disease in an Old Order Mennonite population. (16158439)
2005
7
Novel form of intermediate salla disease: clinical and neuroimaging features. (16417876)
2005
8
Neurocognitive profiles in Salla disease. (15581157)
2004
9
Salla disease and ISSD--what does the future hold? (15171996)
2004
10
Cerebellar white matter involvement in Salla disease. (15179531)
2004
11
Clinical, biochemical, and cytochemical studies on a Japanese Salla disease case associated with a renal disorder. (15635485)
2004
12
Two cases of Salla disease in Danish children. (14696864)
2003
13
A case of Salla disease with involvement of the cerebellar white matter. (12592494)
2003
14
Free sialic acid storage (Salla) disease in Sweden. (12578289)
2002
15
An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease. (12121352)
2002
16
Phenotypic spectrum of Salla disease, a free sialic acid storage disorder. (11992753)
2002
17
Multiple neuroendocrine disorder in Salla disease. (11669356)
2001
18
Central and peripheral nervous system dysfunction in the clinical variation of Salla disease. (10891913)
2000
19
A new metabolite contributing to N-acetyl signal in 1H MRS of the brain in Salla disease. (10331697)
1999
20
Brain involvement in Salla disease. (10219409)
1999
21
Increased brain glucose utilization in Salla disease (free sialic acid storage disorder). (9935050)
1999
22
Use of isotopically radiolabelled GM3 ganglioside to study metabolic alterations in Salla disease. (9343943)
1997
23
Salla disease--rare or underdiagnosed? (9112963)
1997
24
Haplotype analysis in prenatal diagnosis and carrier identification of Salla disease. (8825046)
1996
25
Linkage disequilibrium utilized to establish a refined genetic position of the Salla disease locus on 6q14-q15. (7557994)
1995
26
Lysosomal free sialic acid storage disorders with different phenotypic presentations--infantile-form sialic acid storage disease and Salla disease--represent allelic disorders on 6q14-15. (7573051)
1995
27
Phenotypic variation and magnetic resonance imaging (MRI) in Salla disease, a free sialic acid storage disorder. (7885532)
1994
28
Salla disease variant in a Dutch patient. Potential value of polymorphonuclear leucocytes for heterozygote detection. (1505579)
1992
29
Exclusion map of Salla disease: attempts to localize the disease gene using a computer program. (1733832)
1992
30
Confirmation of the chromosomal localization of human lamp genes and their exclusion as candidate genes for Salla disease. (1959930)
1991
31
Renal handling of free sialic acid in normal humans and patients with Salla disease or renal disease. (2381164)
1990
32
Neuropathology of Salla disease. (3287834)
1988
33
Pulmonary emphysema in a nonsmoking patient with Salla disease. (3565947)
1987
34
Disorders of lysosomal membrane transport--cystinosis and Salla disease. (3326729)
1987
35
Prenatal detection of Salla disease based upon increased free sialic acid in amniocytes. (3425617)
1987
36
Defective sialic acid egress from isolated fibroblast lysosomes of patients with Salla disease. (3961501)
1986
37
Salla disease in one non-Finnish patient. (3770005)
1986
38
Studies on the defect underlying the lysosomal storage of sialic acid in Salla disease. Lysosomal accumulation of sialic acid formed from N-acetyl-mannosamine or derived from low density lipoprotein in cultured mutant fibroblasts. (3944269)
1986
39
Salla disease variants. Sialoylaciduric encephalopathy with increased sialidase activity in two non-Finnish children. (3960283)
1986
40
Studies of lysosomal sialic acid metabolism: retention of sialic acid by Salla disease lysosomes. (3718508)
1986
41
Finnish type of sialic acid storage disease with sialuria (Salla disease): the occurrence and diagnostic significance of cytoplasmic vacuoles in blood lymphocytes. (4032465)
1985
42
Copper and zinc metabolism in aspartylglycosaminuria and Salla disease. (4012278)
1985
43
Familial lysosomal storage disease with generalized vacuolization and sialic aciduria. Sporadic Salla disease. (4010893)
1985
44
Clinical and laboratory diagnosis of Salla disease in infancy and childhood. (6694015)
1984
45
Free N-acetylneuraminic acid in tissues in Salla disease and the enzymes involved in its metabolism. (6297896)
1983
46
Salla disease: a new lysosomal storage disorder with disturbed sialic acid metabolism. (6681560)
1983
47
Increased urinary excretion of free N-acetylneuraminic acid in thirteen patients with Salla disease. (510308)
1979
48
Four patients with a new lysosomal storage disorder (Salla disease). (723890)
1978

Variations for Salla Disease

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UniProtKB/Swiss-Prot genetic disease variations for Salla Disease:

70
id Symbol AA change Variation ID SNP ID
1SLC17A5p.Arg39CysVAR_018684rs80338794
2SLC17A5p.Lys136GluVAR_018685rs80338795

Clinvar genetic disease variations for Salla Disease:

5 (show all 30)
id Gene Variation Type Significance SNP ID Assembly Location
1SLC17A5NM_ 012434.4(SLC17A5): c.409delA (p.Met137Cysfs)deletionLikely pathogenicrs794729653GRCh37Chr 6, 74351530: 74351530
2SLC17A5NM_ 012434.4(SLC17A5): c.406A> G (p.Lys136Glu)SNVPathogenic/ Likely pathogenicrs80338795GRCh37Chr 6, 74351533: 74351533
3SLC17A5NM_ 012434.4(SLC17A5): c.384T> A (p.Tyr128Ter)SNVLikely pathogenicrs1057516257GRCh38Chr 6, 73641832: 73641832
4SLC17A5NM_ 012434.4(SLC17A5): c.423delT (p.Phe141Leufs)deletionLikely pathogenicrs1057516419GRCh38Chr 6, 73641793: 73641793
5SLC17A5NM_ 012434.4(SLC17A5): c.1259+1G> ASNVLikely pathogenicrs146095590GRCh37Chr 6, 74320122: 74320122
6SLC17A5NM_ 012434.4(SLC17A5): c.349dupT (p.Tyr117Leufs)duplicationLikely pathogenicrs1057516492GRCh38Chr 6, 73641867: 73641867
7SLC17A5NM_ 012434.4(SLC17A5): c.215_ 216delCA (p.Thr72Asnfs)deletionLikely pathogenicrs1057516505GRCh37Chr 6, 74354205: 74354206
8SLC17A5NM_ 012434.4(SLC17A5): c.292-2A> CSNVLikely pathogenicrs1057516528GRCh38Chr 6, 73641926: 73641926
9SLC17A5NM_ 012434.4(SLC17A5): c.204delA (p.Asp69Ilefs)deletionLikely pathogenicrs1057516549GRCh38Chr 6, 73644494: 73644494
10SLC17A5NM_ 012434.4(SLC17A5): c.909G> A (p.Trp303Ter)SNVLikely pathogenicrs1057516601GRCh37Chr 6, 74331596: 74331596
11SLC17A5NM_ 012434.4(SLC17A5): c.905delA (p.Asn302Thrfs)deletionLikely pathogenicrs771156053GRCh37Chr 6, 74331600: 74331600
12SLC17A5NM_ 012434.4(SLC17A5): c.693delC (p.Phe233Leufs)deletionLikely pathogenicrs1057516862GRCh38Chr 6, 73636628: 73636628
13SLC17A5NM_ 012434.4(SLC17A5): c.1016G> A (p.Trp339Ter)SNVLikely pathogenicrs1057516910GRCh37Chr 6, 74325133: 74325133
14SLC17A5NM_ 012434.4(SLC17A5): c.1350+1G> ASNVLikely pathogenicrs1057516951GRCh37Chr 6, 74310073: 74310073
15SLC17A5NM_ 012434.4(SLC17A5): c.819+1G> ASNVPathogenic/ Likely pathogenicrs1057517028GRCh38Chr 6, 73635381: 73635381
16SLC17A5NM_ 012434.4(SLC17A5): c.1127delC (p.Ala376Glufs)deletionLikely pathogenicrs1057517111GRCh38Chr 6, 73610532: 73610532
17SLC17A5NM_ 012434.4(SLC17A5): c.1121delG (p.Gly374Aspfs)deletionLikely pathogenicrs1057517119GRCh37Chr 6, 74320261: 74320261
18SLC17A5NM_ 012434.4(SLC17A5): c.215delC (p.Thr72Lysfs)deletionLikely pathogenicrs1057517269GRCh38Chr 6, 73644483: 73644483
19SLC17A5NM_ 012434.4(SLC17A5): c.115C> T (p.Arg39Cys)SNVPathogenicrs80338794GRCh37Chr 6, 74354306: 74354306
20SLC17A5SLC17A5, 15-BP DEL, NT802deletionPathogenic
21SLC17A5NM_ 012434.4(SLC17A5): c.1007_ 1008delTA (p.Leu336Trpfs)deletionPathogenic/ Likely pathogenicrs386833987GRCh37Chr 6, 74325141: 74325142
22SLC17A5NM_ 012434.4(SLC17A5): c.1138_ 1139delGT (p.Val380Serfs)deletionLikely pathogenicrs386833988GRCh37Chr 6, 74320243: 74320244
23SLC17A5NM_ 012434.4(SLC17A5): c.1226G> A (p.Gly409Glu)SNVLikely pathogenicrs386833989GRCh37Chr 6, 74320156: 74320156
24SLC17A5NM_ 012434.4(SLC17A5): c.291G> A (p.Thr97=)SNVPathogenic/ Likely pathogenicrs386833990GRCh37Chr 6, 74354130: 74354130
25SLC17A5NM_ 012434.4(SLC17A5): c.309G> A (p.Trp103Ter)SNVLikely pathogenicrs386833991GRCh37Chr 6, 74351630: 74351630
26SLC17A5NM_ 012434.4(SLC17A5): c.507delA (p.Leu170Terfs)deletionLikely pathogenicrs386833992GRCh37Chr 6, 74351432: 74351432
27SLC17A5NM_ 012434.4(SLC17A5): c.719G> A (p.Trp240Ter)SNVLikely pathogenicrs386833993GRCh37Chr 6, 74345205: 74345205
28SLC17A5NM_ 012434.4(SLC17A5): c.802_ 816delTCATCATTAAGAAAT (p.Ser268_ Asn272del)deletionPathogenic/ Likely pathogenicrs386833994GRCh37Chr 6, 74345108: 74345122
29SLC17A5NM_ 012434.4(SLC17A5): c.95-1G> CSNVLikely pathogenicrs386833995GRCh37Chr 6, 74354327: 74354327
30SLC17A5NM_ 012434.4(SLC17A5): c.983G> A (p.Gly328Glu)SNVLikely pathogenicrs386833996GRCh37Chr 6, 74325166: 74325166

Expression for genes affiliated with Salla Disease

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Search GEO for disease gene expression data for Salla Disease.

Pathways for genes affiliated with Salla Disease

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Pathways related to Salla Disease according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.1LAMP1, LAMP2
29.1LAMP1, LAMP2
39.1LAMP1, LAMP2
49.1LAMP1, LAMP2
58.5LAMP1, LAMP2, SLC17A5

GO Terms for genes affiliated with Salla Disease

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Cellular components related to Salla Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1autolysosomeGO:00447549.9LAMP1, LAMP2
2azurophil granule membraneGO:00355779.9LAMP1, LAMP2
3endosome membraneGO:00100089.8LAMP1, LAMP2
4ficolin-1-rich granule membraneGO:01010039.8LAMP1, LAMP2
5late endosomeGO:00057709.8LAMP1, LAMP2
6cytoplasmic vesicleGO:00314109.2LAMP1, LAMP2, SLC17A5
7lysosomal membraneGO:00057659.1LAMP1, LAMP2, SLC17A5
8lysosomeGO:00057648.5LAMP1, LAMP2, SLC17A5

Biological processes related to Salla Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein stabilizationGO:00508219.1LAMP1, LAMP2

Molecular functions related to Salla Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1enzyme bindingGO:00198999.7LAMP1, LAMP2
2protein domain specific bindingGO:00199049.1LAMP1, LAMP2

Sources for Salla Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet